"GeneDx"[submitter] AND "FLAD1"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 1179862	NC_000001.11:g.154982978_154982979insGGGC	FLAD1	Insertion	not provided	GBenign
Select item 676267	NM_025207.4(FLAD1):c.-447C>T	FLAD1	Single nucleotide variant	not provided	GBenign
Select item 389482	NM_025207.5(FLAD1):c.-304C>T	FLAD1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 419775	NM_025207.5(FLAD1):c.-294AG[1]	FLAD1	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 388265	NM_025207.5(FLAD1):c.-27A>G	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3367834	NM_025207.5(FLAD1):c.35G>A (p.Arg12Lys)	FLAD1 (R12K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1496588	NM_025207.5(FLAD1):c.97G>A (p.Gly33Arg)	FLAD1 (G33R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2052021	NM_025207.5(FLAD1):c.130C>T (p.Leu44Phe)	FLAD1 (L44F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1343852	NM_025207.5(FLAD1):c.203A>G (p.Asp68Gly)	FLAD1 (D68G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3367708	NM_025207.5(FLAD1):c.270G>C (p.Gln90His)	FLAD1 (Q90H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1312217	NM_025207.5(FLAD1):c.292A>G (p.Met98Val)	FLAD1 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1251277	NM_025207.5(FLAD1):c.372+120C>A	FLAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188354	NM_025207.5(FLAD1):c.372+186C>G	FLAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260633	NM_025207.5(FLAD1):c.372+218G>C	FLAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676268	NM_025207.5(FLAD1):c.373-699A>G	FLAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676269	NM_025207.5(FLAD1):c.373-562T>G	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1189605	NM_025207.5(FLAD1):c.373-516G>A	FLAD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 373037	NM_025207.5(FLAD1):c.408C>A (p.Cys136Ter)	FLAD1 (C136* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1352172	NM_025207.5(FLAD1):c.410G>A (p.Arg137Gln)	FLAD1 (R137Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326550	NM_025207.5(FLAD1):c.445G>A (p.Val149Ile)	FLAD1 (V149I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1700767	NM_025207.5(FLAD1):c.503A>G (p.Asn168Ser)	FLAD1 (N168S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1538279	NM_025207.5(FLAD1):c.503A>T (p.Asn168Ile)	FLAD1 (N168I +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1311404	NM_025207.5(FLAD1):c.580G>T (p.Ala194Ser)	FLAD1 (A194S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726018	NM_025207.5(FLAD1):c.640G>A (p.Gly214Arg)	FLAD1 (G117R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 392387	NM_025207.5(FLAD1):c.645A>G (p.Glu215=)	FLAD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1211105	NM_025207.5(FLAD1):c.683G>A (p.Arg228His)	FLAD1 (R129H +2 more)	Single nucleotide variant (missense variant)	Myopathy with abnormal lipid metabolism +1 more	GConflicting classifications of pathogenicity
Select item 1185711	NM_025207.5(FLAD1):c.708C>A (p.Cys236Ter)	FLAD1 (C137* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 382590	NM_025207.5(FLAD1):c.729C>T (p.Phe243=)	FLAD1	Single nucleotide variant (synonymous variant)	Myopathy with abnormal lipid metabolism +1 more	GBenign/Likely benign
Select item 730527	NM_025207.5(FLAD1):c.787C>T (p.Arg263Trp)	FLAD1 (R164W +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2501491	NM_025207.5(FLAD1):c.788G>A (p.Arg263Gln)	FLAD1 (R164Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365373	NM_025207.5(FLAD1):c.844A>G (p.Lys282Glu)	FLAD1 (K183E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372430	NM_025207.5(FLAD1):c.853T>C (p.Tyr285His)	FLAD1 (Y186H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311719	NM_025207.5(FLAD1):c.917G>A (p.Arg306His)	FLAD1 (R207H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408144	NM_025207.5(FLAD1):c.1033C>T (p.Arg345Cys)	FLAD1 (R246C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 817479	NM_025207.5(FLAD1):c.1054_1075del (p.Val352fs)	FLAD1 (V352fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1239986	NM_025207.5(FLAD1):c.1117+123T>G	FLAD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1292179	NM_025207.5(FLAD1):c.1117+133A>G	FLAD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1278060	NM_025207.5(FLAD1):c.1118-330A>G	FLAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207026	NM_025207.5(FLAD1):c.1118-163_1118-162del	FLAD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1191477	NM_025207.5(FLAD1):c.1118-33C>T	FLAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 388747	NM_025207.5(FLAD1):c.1119G>A (p.Gly373=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1303560	NM_025207.5(FLAD1):c.1157C>T (p.Thr386Ile)	FLAD1 (T289I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390084	NM_025207.5(FLAD1):c.1167C>T (p.Thr389=)	FLAD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 516928	NM_025207.5(FLAD1):c.1184G>A (p.Ser395Asn)	FLAD1 (S395N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 507353	NM_025207.5(FLAD1):c.1212C>T (p.Asn404=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1593006	NM_025207.5(FLAD1):c.1309C>T (p.Arg437Cys)	FLAD1 (R340C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 736228	NM_025207.5(FLAD1):c.1310G>A (p.Arg437His)	FLAD1 (R437H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 817013	NM_025207.5(FLAD1):c.1389_1398del (p.Ala463_Glu464insTer)	FLAD1	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2172113	NM_025207.5(FLAD1):c.1469G>A (p.Arg490Gln)	FLAD1 (R490Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1249697	NM_025207.5(FLAD1):c.1555-259_1555-256dup	FLAD1	Duplication (intron variant)	not provided	GBenign
Select item 1189996	NM_025207.5(FLAD1):c.1555-235C>A	FLAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676270	NM_025207.5(FLAD1):c.1555-76G>T	FLAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518060	NM_025207.5(FLAD1):c.1555-19T>G	FLAD1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 507865	NM_025207.5(FLAD1):c.1555-10G>A	FLAD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 390893	NM_025207.5(FLAD1):c.1566C>T (p.Tyr522=)	FLAD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224729	NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)	FLAD1 (R530C +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1419155	NM_025207.5(FLAD1):c.1589G>A (p.Arg530His)	FLAD1 (R433H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3370191	NM_025207.5(FLAD1):c.1619A>G (p.Tyr540Cys)	FLAD1 (Y443C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380658	NM_025207.5(FLAD1):c.1664G>A (p.Arg555Gln)	FLAD1 (R458Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 60